Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.L407F
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CPOX

NM_000097.7:p.L407F

Associated Papers

Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?

Patelli C et al.

Prenatal Diagnosis, 2025

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